Germline MBD4 deficiency causes a multi-tumor predisposition syndrome

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and...

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Autores principales: Palles, Claire, West, Hannah D., Chew, Edward, Galavotti, Sara, Flensburg, Christoffer, Grolleman, Judith E., Jansen, Erik A.M., Curley, Helen, Chegwidden, Laura, Arbe-Barnes, Edward H., Lander, Nicola, Truscott, Rebekah, Pagan, Judith, Bajel, Ashish, Sherwood, Kitty, Martin, Lynn, Thomas, Huw, Georgiou, Demetra, Fostira, Florentia, Goldberg, Yael, Adams, David J., van der Biezen, Simone A.M., Christie, Michael, Clendenning, Mark, Thomas, Laura E., Deltas, Constantinos, Dimovski, Aleksandar J., Dymerska, Dagmara, Lubinski, Jan, Mahmood, Khalid, van der Post, Rachel S., Sanders, Mathijs, Weitz, Jürgen, Taylor, Jenny C., Turnbull, Clare, Vreede, Lilian, van Wezel, Tom, Whalley, Celina, Arnedo-Pac, Claudia, Caravagna, Giulio, Cross, William, Chubb, Daniel, Frangou, Anna, Gruber, Andreas J., Kinnersley, Ben, Noyvert, Boris, Church, David, Graham, Trevor, Houlston, Richard, Lopez-Bigas, Nuria, Sottoriva, Andrea, Wedge, David, Jenkins, Mark A., Kuiper, Roland P., Roberts, Andrew W., Cheadle, Jeremy P., Ligtenberg, Marjolijn J.L., Hoogerbrugge, Nicoline, Koelzer, Viktor H., Rivas, Andres Dacal, Winship, Ingrid M., Ponte, Clara Ruiz, Buchanan, Daniel D., Power, Derek G., Green, Andrew, Tomlinson, Ian P.M., Sampson, Julian R., Majewski, Ian J., de Voer, Richarda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118112/
https://www.ncbi.nlm.nih.gov/pubmed/35460607
http://dx.doi.org/10.1016/j.ajhg.2022.03.018

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